esv2675519
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:112
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,406
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1134 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1134 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2675519 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
esv2675519 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 66,745,594 | 66,756,999 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5403440 | deletion | SAMN00000492 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,125 |
essv5423448 | deletion | SAMN00000922 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
essv5451218 | deletion | SAMN00000494 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,068 |
essv5452390 | deletion | SAMN00000519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 949 |
essv5453779 | deletion | SAMN00000527 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
essv5460849 | deletion | SAMN00009111 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,567 |
essv5470968 | deletion | SAMN00006544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,696 |
essv5513312 | deletion | SAMN00001635 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,158 |
essv5516571 | deletion | SAMN00014377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 618 |
essv5528346 | deletion | SAMN00000430 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,528 |
essv5531625 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
essv5564739 | deletion | SAMN00009088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
essv5565120 | deletion | SAMN00001614 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,305 |
essv5586803 | deletion | SAMN00006525 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,128 |
essv5590882 | deletion | SAMN00001655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 775 |
essv5590966 | deletion | SAMN00000511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,272 |
essv5594007 | deletion | SAMN00006448 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,788 |
essv5620355 | deletion | SAMN00006511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,159 |
essv5627331 | deletion | SAMN00000431 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,496 |
essv5638873 | deletion | SAMN00006463 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,668 |
essv5639172 | deletion | SAMN00001035 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,325 |
essv5639330 | deletion | SAMN00000486 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,080 |
essv5639541 | deletion | SAMN00001029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,237 |
essv5645302 | deletion | SAMN00001648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,343 |
essv5645462 | deletion | SAMN00016977 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
essv5646297 | deletion | SAMN00000445 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,439 |
essv5657181 | deletion | SAMN00006489 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
essv5675313 | deletion | SAMN00000432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
essv5687881 | deletion | SAMN00000533 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,138 |
essv5688645 | deletion | SAMN00001641 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,148 |
essv5696676 | deletion | SAMN00001650 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 814 |
essv5706002 | deletion | SAMN00006340 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
essv5715370 | deletion | SAMN00006454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
essv5721242 | deletion | SAMN00001601 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
essv5738178 | deletion | SAMN00000425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
essv5740905 | deletion | SAMN00000540 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
essv5759502 | deletion | SAMN00009109 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
essv5778162 | deletion | SAMN00000530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,423 |
essv5783379 | deletion | SAMN00006586 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
essv5785914 | deletion | SAMN00006472 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
essv5790392 | deletion | SAMN00001606 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,273 |
essv5795045 | deletion | SAMN00001639 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,246 |
essv5824270 | deletion | SAMN00001605 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,150 |
essv5831139 | deletion | SAMN00001662 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
essv5839877 | deletion | SAMN00000521 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
essv5841856 | deletion | SAMN00001290 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 864 |
essv5861608 | deletion | SAMN00001032 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 996 |
essv5865847 | deletion | SAMN00000423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,491 |
essv5868027 | deletion | SAMN00001634 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,135 |
essv5887837 | deletion | SAMN00001613 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,540 |
essv5895555 | deletion | SAMN00000434 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
essv5905894 | deletion | SAMN00001603 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,445 |
essv5922647 | deletion | SAMN00000419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,634 |
essv5925477 | deletion | SAMN00006432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,127 |
essv5934230 | deletion | SAMN00000518 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,001 |
essv5950927 | deletion | SAMN00004661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,025 |
essv5955219 | deletion | SAMN00001660 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,173 |
essv5981903 | deletion | SAMN00000435 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,556 |
essv5991134 | deletion | SAMN00000506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,170 |
essv5997358 | deletion | SAMN00001647 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,223 |
essv5999059 | deletion | SAMN00000457 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,165 |
essv5999600 | deletion | SAMN00007786 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,118 |
essv6009241 | deletion | SAMN00000523 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,001 |
essv6014965 | deletion | SAMN00000459 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,590 |
essv6017928 | deletion | SAMN00014345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,183 |
essv6023252 | deletion | SAMN00000515 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,093 |
essv6028842 | deletion | SAMN00000927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
essv6029124 | deletion | SAMN00006481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
essv6033707 | deletion | SAMN00000427 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,692 |
essv6062914 | deletion | SAMN00004643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,095 |
essv6100417 | deletion | SAMN00801738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 969 |
essv6111881 | deletion | SAMN00000447 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,578 |
essv6121204 | deletion | SAMN00000529 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,088 |
essv6121940 | deletion | SAMN00004666 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
essv6126481 | deletion | SAMN00001643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,323 |
essv6140139 | deletion | SAMN00006478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,718 |
essv6159815 | deletion | SAMN00006573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,689 |
essv6164991 | deletion | SAMN00009153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,539 |
essv6167244 | deletion | SAMN00001036 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,348 |
essv6178889 | deletion | SAMN00006441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,777 |
essv6233093 | deletion | SAMN00000512 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,038 |
essv6236112 | deletion | SAMN00007785 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
essv6248190 | deletion | SAMN00000377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 987 |
essv6260592 | deletion | SAMN00001659 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 822 |
essv6265053 | deletion | SAMN00801103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,198 |
essv6280378 | deletion | SAMN00801356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 966 |
essv6289117 | deletion | SAMN00000454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,020 |
essv6295541 | deletion | SAMN00000520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,026 |
essv6296924 | deletion | SAMN00000514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,014 |
essv6308679 | deletion | SAMN00000509 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
essv6310654 | deletion | SAMN00001661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 787 |
essv6329030 | deletion | SAMN00000544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,188 |
essv6332542 | deletion | SAMN00006372 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,554 |
essv6344678 | deletion | SAMN00001292 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 864 |
essv6356697 | deletion | SAMN00006433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,373 |
essv6358075 | deletion | SAMN00000925 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,217 |
essv6386142 | deletion | SAMN00001037 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,232 |
essv6400816 | deletion | SAMN00007725 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,143 |
essv6452101 | deletion | SAMN00001651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 799 |
essv6453495 | deletion | SAMN00000522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,036 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5403440 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5423448 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5451218 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5452390 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5453779 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5460849 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5470968 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5513312 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5516571 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5528346 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5531625 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5564739 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5565120 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5586803 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5590882 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5590966 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5594007 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5620355 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5627331 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5638873 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5639172 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5639330 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5639541 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5645302 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5645462 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5646297 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5657181 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5675313 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5687881 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5688645 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5696676 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5706002 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5715370 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5721242 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5738178 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5740905 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5759502 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5778162 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5783379 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5785914 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5790392 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5795045 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5824270 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5831139 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5839877 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5841856 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5861608 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5865847 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5868027 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5887837 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5895555 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5905894 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5922647 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5925477 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5934230 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5950927 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5955219 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5981903 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5991134 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5997358 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5999059 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv5999600 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6009241 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6014965 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6017928 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6023252 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6028842 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6029124 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6033707 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6062914 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6100417 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6111881 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6121204 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6121940 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6126481 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6140139 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6159815 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6164991 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6167244 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6178889 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6233093 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6236112 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6248190 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6260592 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6265053 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6280378 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6289117 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6295541 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6296924 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6308679 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6310654 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6329030 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6332542 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6344678 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6356697 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6358075 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6386142 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6400816 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6452101 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
essv6453495 | Remapped | Perfect | NC_000018.10:g.690 78357_69089762delT | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,078,357 | 69,089,762 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6248190 | 7 | SAMN00000377 | SNP array | Probe signal intensity | Pass |
essv5922647 | 7 | SAMN00000419 | SNP array | Probe signal intensity | Pass |
essv5865847 | 7 | SAMN00000423 | SNP array | Probe signal intensity | Pass |
essv5738178 | 7 | SAMN00000425 | SNP array | Probe signal intensity | Pass |
essv6033707 | 7 | SAMN00000427 | SNP array | Probe signal intensity | Pass |
essv5528346 | 7 | SAMN00000430 | SNP array | Probe signal intensity | Pass |
essv5627331 | 7 | SAMN00000431 | SNP array | Probe signal intensity | Pass |
essv5675313 | 7 | SAMN00000432 | SNP array | Probe signal intensity | Pass |
essv5895555 | 7 | SAMN00000434 | SNP array | Probe signal intensity | Pass |
essv5981903 | 7 | SAMN00000435 | SNP array | Probe signal intensity | Pass |
essv6457562 | 7 | SAMN00000436 | SNP array | Probe signal intensity | Pass |
essv5646297 | 7 | SAMN00000445 | SNP array | Probe signal intensity | Pass |
essv6111881 | 7 | SAMN00000447 | SNP array | Probe signal intensity | Pass |
essv6289117 | 7 | SAMN00000454 | SNP array | Probe signal intensity | Pass |
essv5999059 | 7 | SAMN00000457 | SNP array | Probe signal intensity | Pass |
essv6596679 | 7 | SAMN00000458 | SNP array | Probe signal intensity | Pass |
essv6014965 | 7 | SAMN00000459 | SNP array | Probe signal intensity | Pass |
essv5639330 | 7 | SAMN00000486 | SNP array | Probe signal intensity | Pass |
essv5403440 | 7 | SAMN00000492 | SNP array | Probe signal intensity | Pass |
essv5451218 | 7 | SAMN00000494 | SNP array | Probe signal intensity | Pass |
essv6586226 | 7 | SAMN00000497 | SNP array | Probe signal intensity | Pass |
essv5991134 | 7 | SAMN00000506 | SNP array | Probe signal intensity | Pass |
essv6308679 | 7 | SAMN00000509 | SNP array | Probe signal intensity | Pass |
essv5590966 | 7 | SAMN00000511 | SNP array | Probe signal intensity | Pass |
essv6233093 | 7 | SAMN00000512 | SNP array | Probe signal intensity | Pass |
essv6296924 | 7 | SAMN00000514 | SNP array | Probe signal intensity | Pass |
essv6023252 | 7 | SAMN00000515 | SNP array | Probe signal intensity | Pass |
essv6473258 | 7 | SAMN00000516 | SNP array | Probe signal intensity | Pass |
essv5934230 | 7 | SAMN00000518 | SNP array | Probe signal intensity | Pass |
essv5452390 | 7 | SAMN00000519 | SNP array | Probe signal intensity | Pass |
essv6295541 | 7 | SAMN00000520 | SNP array | Probe signal intensity | Pass |
essv5839877 | 7 | SAMN00000521 | SNP array | Probe signal intensity | Pass |
essv6453495 | 7 | SAMN00000522 | SNP array | Probe signal intensity | Pass |
essv6009241 | 7 | SAMN00000523 | SNP array | Probe signal intensity | Pass |
essv6499648 | 7 | SAMN00000524 | SNP array | Probe signal intensity | Pass |
essv5453779 | 7 | SAMN00000527 | SNP array | Probe signal intensity | Pass |
essv6121204 | 7 | SAMN00000529 | SNP array | Probe signal intensity | Pass |
essv5778162 | 7 | SAMN00000530 | SNP array | Probe signal intensity | Pass |
essv5687881 | 7 | SAMN00000533 | SNP array | Probe signal intensity | Pass |
essv6570735 | 7 | SAMN00000539 | SNP array | Probe signal intensity | Pass |
essv5740905 | 7 | SAMN00000540 | SNP array | Probe signal intensity | Pass |
essv6329030 | 7 | SAMN00000544 | SNP array | Probe signal intensity | Pass |
essv5423448 | 7 | SAMN00000922 | SNP array | Probe signal intensity | Pass |
essv6503214 | 7 | SAMN00000923 | SNP array | Probe signal intensity | Pass |
essv6358075 | 7 | SAMN00000925 | SNP array | Probe signal intensity | Pass |
essv6028842 | 7 | SAMN00000927 | SNP array | Probe signal intensity | Pass |
essv5639541 | 7 | SAMN00001029 | SNP array | Probe signal intensity | Pass |
essv5861608 | 7 | SAMN00001032 | SNP array | Probe signal intensity | Pass |
essv5639172 | 7 | SAMN00001035 | SNP array | Probe signal intensity | Pass |
essv6167244 | 7 | SAMN00001036 | SNP array | Probe signal intensity | Pass |
essv6386142 | 7 | SAMN00001037 | SNP array | Probe signal intensity | Pass |
essv5841856 | 7 | SAMN00001290 | SNP array | Probe signal intensity | Pass |
essv6344678 | 7 | SAMN00001292 | SNP array | Probe signal intensity | Pass |
essv5721242 | 7 | SAMN00001601 | SNP array | Probe signal intensity | Pass |
essv5905894 | 7 | SAMN00001603 | SNP array | Probe signal intensity | Pass |
essv5824270 | 7 | SAMN00001605 | SNP array | Probe signal intensity | Pass |
essv5790392 | 7 | SAMN00001606 | SNP array | Probe signal intensity | Pass |
essv5887837 | 7 | SAMN00001613 | SNP array | Probe signal intensity | Pass |
essv5565120 | 7 | SAMN00001614 | SNP array | Probe signal intensity | Pass |
essv5868027 | 7 | SAMN00001634 | SNP array | Probe signal intensity | Pass |
essv5513312 | 7 | SAMN00001635 | SNP array | Probe signal intensity | Pass |
essv5795045 | 7 | SAMN00001639 | SNP array | Probe signal intensity | Pass |
essv5688645 | 7 | SAMN00001641 | SNP array | Probe signal intensity | Pass |
essv6126481 | 7 | SAMN00001643 | SNP array | Probe signal intensity | Pass |
essv5997358 | 7 | SAMN00001647 | SNP array | Probe signal intensity | Pass |
essv5645302 | 7 | SAMN00001648 | SNP array | Probe signal intensity | Pass |
essv5696676 | 7 | SAMN00001650 | SNP array | Probe signal intensity | Pass |
essv6452101 | 7 | SAMN00001651 | SNP array | Probe signal intensity | Pass |
essv5590882 | 7 | SAMN00001655 | SNP array | Probe signal intensity | Pass |
essv6260592 | 7 | SAMN00001659 | SNP array | Probe signal intensity | Pass |
essv5955219 | 7 | SAMN00001660 | SNP array | Probe signal intensity | Pass |
essv6310654 | 7 | SAMN00001661 | SNP array | Probe signal intensity | Pass |
essv5831139 | 7 | SAMN00001662 | SNP array | Probe signal intensity | Pass |
essv6062914 | 7 | SAMN00004643 | SNP array | Probe signal intensity | Pass |
essv5950927 | 7 | SAMN00004661 | SNP array | Probe signal intensity | Pass |
essv6121940 | 7 | SAMN00004666 | SNP array | Probe signal intensity | Pass |
essv5531625 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
essv5706002 | 7 | SAMN00006340 | SNP array | Probe signal intensity | Pass |
essv6332542 | 7 | SAMN00006372 | SNP array | Probe signal intensity | Pass |
essv5925477 | 7 | SAMN00006432 | SNP array | Probe signal intensity | Pass |
essv6356697 | 7 | SAMN00006433 | SNP array | Probe signal intensity | Pass |
essv6178889 | 7 | SAMN00006441 | SNP array | Probe signal intensity | Pass |
essv5594007 | 7 | SAMN00006448 | SNP array | Probe signal intensity | Pass |
essv5715370 | 7 | SAMN00006454 | SNP array | Probe signal intensity | Pass |
essv5638873 | 7 | SAMN00006463 | SNP array | Probe signal intensity | Pass |
essv6531055 | 7 | SAMN00006466 | SNP array | Probe signal intensity | Pass |
essv5785914 | 7 | SAMN00006472 | SNP array | Probe signal intensity | Pass |
essv6140139 | 7 | SAMN00006478 | SNP array | Probe signal intensity | Pass |
essv6029124 | 7 | SAMN00006481 | SNP array | Probe signal intensity | Pass |
essv5657181 | 7 | SAMN00006489 | SNP array | Probe signal intensity | Pass |
essv5620355 | 7 | SAMN00006511 | SNP array | Probe signal intensity | Pass |
essv6508656 | 7 | SAMN00006522 | SNP array | Probe signal intensity | Pass |
essv5586803 | 7 | SAMN00006525 | SNP array | Probe signal intensity | Pass |
essv6474546 | 7 | SAMN00006541 | SNP array | Probe signal intensity | Pass |
essv5470968 | 7 | SAMN00006544 | SNP array | Probe signal intensity | Pass |
essv6500790 | 7 | SAMN00006562 | SNP array | Probe signal intensity | Pass |
essv6159815 | 7 | SAMN00006573 | SNP array | Probe signal intensity | Pass |
essv5783379 | 7 | SAMN00006586 | SNP array | Probe signal intensity | Pass |
essv6400816 | 7 | SAMN00007725 | SNP array | Probe signal intensity | Pass |
essv6236112 | 7 | SAMN00007785 | SNP array | Probe signal intensity | Pass |
essv5999600 | 7 | SAMN00007786 | SNP array | Probe signal intensity | Pass |
essv5564739 | 7 | SAMN00009088 | SNP array | Probe signal intensity | Pass |
essv5759502 | 7 | SAMN00009109 | SNP array | Probe signal intensity | Pass |
essv5460849 | 7 | SAMN00009111 | SNP array | Probe signal intensity | Pass |
essv6164991 | 7 | SAMN00009153 | SNP array | Probe signal intensity | Pass |
essv6539304 | 7 | SAMN00009160 | SNP array | Probe signal intensity | Pass |
essv6017928 | 7 | SAMN00014345 | SNP array | Probe signal intensity | Pass |
essv5516571 | 7 | SAMN00014377 | SNP array | Probe signal intensity | Pass |
essv5645462 | 7 | SAMN00016977 | SNP array | Probe signal intensity | Pass |
essv6265053 | 7 | SAMN00801103 | SNP array | Probe signal intensity | Pass |
essv6280378 | 7 | SAMN00801356 | SNP array | Probe signal intensity | Pass |
essv6100417 | 7 | SAMN00801738 | SNP array | Probe signal intensity | Pass |